Hyperprolinemia

Common Name(s)

Hyperprolinemia

Hyperprolinemia is when there is an excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms: hyperprolinemia type 1 and hyperprolinemia type 2. People with hyperprolinemia type I often do not show any symptoms, although they have proline levels in their blood between 3 and 10 times the normal level. Less commonly, affected individuals can experience seizures, intellectual disability, or other neurological or psychiatric problems. Hyperprolinemia is caused by mutations in the PRODH gene and is inherited in an autosomal recessive pattern.

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Finding the right clinical trial for Hyperprolinemia can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Hyperprolinemia" returned 10 free, full-text research articles on human participants.
First 3 results:

Type II hyperprolinemia is an autosomal recessive disorder caused by a deficiency in Δ(1)-pyrroline-5-carboxylate dehydrogenase (P5CDH; also known as ALDH4A1), the aldehyde dehydrogenase that catalyzes the oxidation of glutamate semialdehyde to glutamate. Here, we report the first ...

There are multiple genetic links between schizophrenia and a deficit of proline dehydrogenase (PRODH) enzyme activity. However, reports testing for an association of schizophrenia with the resulting proline elevation have been conflicting. The objectives of this study were to investigate ...

Microdeletions of the 22q11 region, responsible for the velo-cardio-facial syndrome (VCFS), are associated with an increased risk for psychosis and mental retardation. Recently, it has been shown in a hyperprolinemic mouse model that an interaction between two genes localized in the ...

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Hyperprolinemia" returned 0 free, full-text review articles on human participants.

No free, full-text review articles on human participants are available at this time.
Please click this link to visit the PubMed website for results on "Hyperprolinemia".

According to ClinicalTrials.gov there are currently 0 additional "open" studies for "Hyperprolinemia" (open studies are recruiting volunteers) and 1 "Hyperprolinemia" studies with "all" status. Visit ClinicalTrials.gov now to view them. Or alternatively, consider TrialsFinder for assistance:

Relief is when you and the right researcher find each other
Finding the right clinical trial for Hyperprolinemia can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.